1. Gene
  2. CENPA - centromere protein A Gene

CENPA - centromere protein A Gene

中文名称:着丝粒蛋白 A

种属: Homo sapiens

同用名: CenH3; CENP-A

基因 ID: 1058 | 基因类型: protein coding

关于 CENPA

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:26,786,056-26,794,589 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues and 20 paralogues. Broad expression in lymph node (RPKM 4.5), appendix (RPKM 2.5) and 14 other tissues.

功能概要

着丝粒是分化的染色体结构域,它指定染色体的有丝分裂行为。该基因编码一种着丝粒蛋白,该蛋白包含靶向着丝粒所需的组蛋白 H3 相关组蛋白折叠结构域。着丝粒蛋白 A 被认为是修饰的核小体或核小体样结构的一个组成部分,其中它取代了核小体颗粒 (H3-H4) 2 四聚体核心中常规组蛋白 H3 的 1 个或两个拷贝。该蛋白是一种不依赖于复制的组蛋白,是组蛋白 H3 家族的一员。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 11 月]

Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]

CENPA 基因产物(2)

mRNA Protein Name
NM_001042426.2 NP_001035891.1 histone H3-like centromeric protein A isoform b
NM_001809.4 NP_001800.1 histone H3-like centromeric protein A isoform a

CENPA 蛋白结构

Histone

Histone: Core histone H2A/H2B/H3/H4 (57 - 133)

  • 0
  • 100
  • 140 a.a.
蛋白主名 其他名称

histone H3-like centromeric protein A

centromere autoantigen A

关联疾病

疾病名称 别名
Luminal Breast Carcinoma A

Breast Tumor Luminal

Luminal A Breast Carcinoma

Luminal Breast Cancer

Crest Syndrome
Dyskinesia Of Esophagus

Esophageal Motility Disorders

Dyskinesia Of Oesophagus

Esophageal Dysmotility

Esophageal Motility Disorder

Oesophageal Dysmotility

Oesophageal Motor Disorder

Esophageal Spasm

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Esophageal Leukoplakia

Leukoplakia Of Esophagus

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1

HP1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hepatic Agt Deficiency

Oxalosis I

Primary Hyperoxaluria, Type I

Serine:Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

Serine Pyruvate Aminotransferase Deficiency

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Oxalosis 1

Hyperoxaluria Primary 1

Hyperoxaluria Primary Type I

Ph1

Primary Hyperoxaluria Type I

Oxalosis Type 1

2-Oxoglutarate Glyoxylate Carboligase Deficiency

Telangiectasis

Telangiectasia

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Retinitis Pigmentosa 11

RP11

Retinitis Pigmentosa-11

Retinitis Pigmentosa, Type 11

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CENPA RGD RGD:1563607
Mus musculus CENPA MGD MGI:88375
Felis catus CENPA VGNC VGNC:60752
Macaca mulatta CENPA VGNC VGNC:71005
Canis familiaris CENPA VGNC VGNC:39101